Clinical trials: Disorders of Sex Development (DSD)
Turner Syndrome
A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone
This study is a multicenter, open-label, observational, postmarketing surveillance study of Genentech growth hormone (GH) products in the treatment of girls with Turner syndrome in the United States and Canada.
- Trial name
- NCT00097552
- Volunteers
- 1,696 people
- Sponsor
- Genentech, Inc.
Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18)
Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
Validate that circulating cell free fetal nucleic acid can be used to identify a direct marker for fetal aneuploidy, particularly fetal Down Syndrome (DS), that is better than surrogate markers.
- Conditions
- Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Turner Syndrome
- Trial name
- NCT00770458
- Where
- 7 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Sequenom, Inc.
Hypothalamic Obesity, Prader-Willi Syndrome
A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment
The purpose of this study is to evaluate the safety, tolerability, and PK of RM-718 in healthy subjects with obesity and in patients with MC4R Pathway Impairment
- Conditions
- Hypothalamic Obesity, Prader-Willi Syndrome, PWS
- Trial name
- NCT06239116
- Testing
- Part C: RM-718, Part D: RM-718
- Where
- 7 sites in United States
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Growth Hormone Disorder, Growth Hormone Deficiency in Children
Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency
This trial is conducted in Asia. The aim of this trial is to evaluate the new liquid somatropin formulation in children with growth hormone deficiency.
- Conditions
- Growth Hormone Disorder, Growth Hormone Deficiency in Children, Genetic Disorder, Turner Syndrome
- Trial name
- NCT01563926
- Testing
- somatropin
- Where
- 6 sites in Israel
- Volunteers
- 168 people
- Sponsor
- Novo Nordisk A/S
Hypothalamic Obesity
A Long-Term Study of Bivamelagon in Participants With Hypothalamic Obesity (HO)
This is a long-term, open-label extension study of bivamelagon in participants with Hypothalamic Obesity (HO) who have transitioned from the index study, LG-MCCL005. The study will last up to 2 years.
- Trial name
- NCT07156578
- Testing
- Bivamelagon
- Where
- 9 sites in United States, United Kingdom
- Volunteers
- 25 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Congenital Adrenal Hyperplasia
A Study of Gene Therapy for Classic Congenital Adrenal Hyperplasia (CAH)
This study is designed to evaluate the safety, tolerability, and efficacy of AAV5 based BBP-631 in adult participants diagnosed with classic congenital adrenal hyperplasia.
- Trial name
- NCT04783181
- Testing
- AAV BBP-631
- Where
- 5 sites in United States
- Volunteers
- 8 people
- Sponsor
- Adrenas Therapeutics Inc
Turner's Syndrome, Human Growth Hormone Deficiency
Evaluation of Overall Compliance and Duration of Zomacton® Treatment With the Zomajet® Needle-free Device
The purpose of this strictly observational, prospective, longitudinal study is to evaluate with sufficient precision the rate of overall treatment compliance from one year to 3 years of follow-up of the patients.
- Trial name
- ZOMAJET (NCT01306357)
- Testing
- Somatropin
- Where
- 17 sites in France
- Volunteers
- 87 people
- Sponsor
- Ferring Pharmaceuticals
Genetic Disorder, Turner Syndrome
Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome
This trial is conducted in Europe. The aim of the trial is to induce normal pubertal development in girls with Turner Syndrome in accordance with that of their peers and their individual state psychosocial maturation.
- Trial name
- NCT01710696
- Testing
- 17-beta estradiol
- Where
- 28 sites in Spain
- Volunteers
- 50 people
- Sponsor
- Novo Nordisk A/S
Congenital Adrenal Hyperplasia, Adrenal Insufficiency
An Open Label Study in Healthy Volunteers to Compare Chronocort® to Hydrocortisone
This was an open label, randomized, single dose, three period crossover pharmacokinetic study of Chronocort® in 30 healthy male volunteers. The study was conducted in smaller sub groups (Group 1, n=18 and Group 2, n=12).
- Trial name
- NCT03019614
- Testing
- Hydrocortisone, Chronocort
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Neurocrine UK Limited
Schizophrenia, Paranoid, Schizophrenia, Disorganized
Flexible Dose, Long-term Safety Study of Asenapine for the Treatment of Schizophrenia in Adolescents (P05897)
This study is designed to evaluate whether asenapine, which is approved by the United States Food and Drug Administration (US FDA) for acute treatment of schizophrenia in adults, is generally safe and well tolerated in…
- Conditions
- Schizophrenia, Paranoid, Schizophrenia, Disorganized, Schizophrenia, Undifferentiated
- Trial name
- NCT01190267
- Testing
- asenapine
- Volunteers
- 204 people
- Sponsor
- Organon and Co
Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18)
Non-Invasive Determination of Fetal Chromosome Abnormalities
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome…
- Conditions
- Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Klinefelter Syndrome (47, XXY)
- Trial name
- NCT00891852
- Where
- 7 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Lenetix Medical Screening Laboratory
Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form
A Trial of Setmelanotide in Patients With Congenital Hypothalamic Obesity (Sub-study of NCT05774756)
This is a sub-study of Study RM-493-040 (NCT05774756). The goal of this sub-study is to learn how well Setmelanotide works to improve weight reduction, hunger, and quality of life in patients 4 years of age and older with…
- Conditions
- Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form, Septo-Optic Dysplasia, Optic Nerve Hypoplasia
- Trial name
- NCT06760546
- Testing
- Setmelanotide
- Where
- 11 sites in United States, United Kingdom
- Volunteers
- 39 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia
Evaluate the Safety, Efficacy, and Pharmacokinetics of CRN04894 in Participants With Congenital Adrenal Hyperplasia (TouCAHn)
The purpose of this Phase 2, open-label, sequential dose cohort study is to evaluate the safety, efficacy, and pharmacokinetics (PK) of atumelnant (CRN04894) in participants with classic congenital adrenal hyperplasia (CAH)…
- Trial name
- NCT05907291
- Testing
- atumelnant (CRN04894)
- Where
- 27 sites in United States, Argentina and 5 more
- Volunteers
- 38 people
- Sponsor
- Crinetics Pharmaceuticals Inc.
22q11 Deletion Syndrome, DiGeorge Syndrome
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and…
- Conditions
- 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18
- Trial name
- SMART (NCT02381457)
- Where
- 21 sites in United States, Australia and 4 more
- Volunteers
- 20,960 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Polycystic Ovarian Syndrome (PCOS)
This Study Aims to Evaluate Whether Milamend's Product Could Improve Hormone Balance in Women Who Suffer From Self-reported PCOS Symptoms.
The rationale for this study is to observe the impact of a consumer-grade commercially available product called Milamend Hormone Balance on quality of life and hormonal health in women with self-reported symptoms associated with…
- Trial name
- NCT07764328
- Testing
- A dietary supplement powder for women
- Where
- United States
- Volunteers
- 225 people
- Sponsor
- Mila Mend Inc.
Chronic Adrenal Insufficiency
A European Post-Authorisation Observational Study (Registry) of Patients With Chronic Adrenal Insufficiency (AI)
As a post-approval requirement of the European Medicines Agency, this European patient post authorization safety study is an observational study being conducted to monitor the safety of long-term treatment with Plenadren and…
- Trial name
- NCT01661387
- Where
- 24 sites in Germany, Italy and 3 more
- Volunteers
- 3,258 people
- Sponsor
- Shire
Adrenal Insufficiency, Congenital Adrenal Hyperplasia
A Two-part, Study to Compare the Pharmacokinetics and Dose Proportionality of up to 6 Chronocort Formulations
This was an open label, randomised, single dose study, comprising Part A (undertaken in two separate three-period crossover cohorts denoted as A1 and A2) and Part B (undertaken in one four-period crossover cohort), to evaluate…
- Trial name
- NCT03051893
- Testing
- Chronocort
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Neurocrine UK Limited
Polycystic Ovary Syndrome
Study of Pharmacodynamics of LIK066 in Overweight and Obese Women With Polycystic Ovary Syndrome
The purpose of the study was to evaluate whether LIK066 can be developed for the treatment of polycystic ovary syndrome (PCOS) in overweight and obese women.
- Trial name
- PCOS (NCT03152591)
- Testing
- LIK066
- Where
- 5 sites in United States, Germany
- Volunteers
- 29 people
- Sponsor
- Novartis Pharmaceuticals
Down Syndrome, Edwards Syndrome
Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies
This study will evaluate the clinical performance of massively parallel sequencing (MPS) using the MaterniT21 PLUS LDT in the detection of fetal aneuploidy in circulating cfDNA extracted from a maternal blood sample obtained from…
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Turner Syndrome
- Trial name
- NCT02226315
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Sequenom, Inc.
Short Stature, Idiopathic, Infant, Small for Gestational Age
Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj.
The purpose of this study is to assess the ease of use, preference, and safety after 8 weeks subcutaneous administration of EutropinPen Inj. in patients pretreated with recombinant human growth hormone by reusable device.
- Conditions
- Short Stature, Idiopathic, Infant, Small for Gestational Age, Growth Hormone Deficiency, Chronic Renal Failure
- Trial name
- NCT03015909
- Testing
- Somatropin
- Where
- South Korea
- Volunteers
- 116 people
- Sponsor
- LG Life Sciences